Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:Zfp442'

383696

Institutional Source

Beutler Lab

Gene Symbol

Zfp442

Ensembl Gene

ENSMUSG00000068130

Gene Name

zinc finger protein 442

Synonyms

OTTMUSG00000015730

MMRRC Submission

042560-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150407141-150451486 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150408495 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 439 (C439S)

Ref Sequence

ENSEMBL: ENSMUSP00000140098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109916] [ENSMUST00000185796]

AlphaFold

A2AQA0

Predicted Effect

probably benign
Transcript: ENSMUST00000109916
AA Change: C496S

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105542
Gene: ENSMUSG00000068130
AA Change: C496S

Domain	Start	End	E-Value	Type
KRAB	4	66	3.27e-19	SMART
ZnF_C2H2	159	181	8.34e-3	SMART
ZnF_C2H2	211	233	9.58e-3	SMART
ZnF_C2H2	239	261	2.43e-4	SMART
ZnF_C2H2	267	289	1.38e-3	SMART
ZnF_C2H2	295	317	4.17e-3	SMART
ZnF_C2H2	323	345	3.16e-3	SMART
ZnF_C2H2	351	373	1.58e-3	SMART
ZnF_C2H2	379	401	9.58e-3	SMART
ZnF_C2H2	407	429	2.09e-3	SMART
ZnF_C2H2	435	457	2.2e-2	SMART
ZnF_C2H2	463	485	1.6e-4	SMART
ZnF_C2H2	491	513	1.82e-3	SMART
ZnF_C2H2	519	541	4.47e-3	SMART
ZnF_C2H2	547	569	3.63e-3	SMART
ZnF_C2H2	575	597	4.79e-3	SMART
ZnF_C2H2	603	625	8.47e-4	SMART
ZnF_C2H2	631	654	3.11e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185796
AA Change: C439S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140098
Gene: ENSMUSG00000068130
AA Change: C439S

Domain	Start	End	E-Value	Type
KRAB	3	65	1.4e-21	SMART
ZnF_C2H2	158	180	3.4e-5	SMART
ZnF_C2H2	210	232	3.9e-5	SMART
ZnF_C2H2	238	260	1e-6	SMART
ZnF_C2H2	266	288	5.6e-6	SMART
ZnF_C2H2	294	316	1.8e-5	SMART
ZnF_C2H2	322	344	1.3e-5	SMART
ZnF_C2H2	350	372	6.7e-6	SMART
ZnF_C2H2	378	400	9.6e-5	SMART
ZnF_C2H2	406	428	6.9e-7	SMART
ZnF_C2H2	434	456	7.7e-6	SMART
ZnF_C2H2	462	484	1.9e-5	SMART
ZnF_C2H2	490	512	1.5e-5	SMART
ZnF_C2H2	518	540	2e-5	SMART
ZnF_C2H2	546	568	3.5e-6	SMART
ZnF_C2H2	574	597	1.3e-4	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,163,414 (GRCm38)	I133N	probably benign	Het
Abca15	T	C	7: 120,360,919 (GRCm38)	S642P	probably damaging	Het
Abcg5	G	T	17: 84,660,141 (GRCm38)	Y410*	probably null	Het
Anapc7	T	A	5: 122,422,606 (GRCm38)	M10K	probably damaging	Het
Ank2	G	A	3: 127,032,096 (GRCm38)	T418M	probably benign	Het
Arhgap17	T	C	7: 123,308,360 (GRCm38)	R260G	possibly damaging	Het
Atp1a3	T	C	7: 24,994,626 (GRCm38)	T381A	probably damaging	Het
Cep89	T	G	7: 35,403,152 (GRCm38)	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,316,382 (GRCm38)	D309G	probably damaging	Het
Dcbld2	T	C	16: 58,465,782 (GRCm38)	I768T	probably benign	Het
Dgke	A	G	11: 89,050,802 (GRCm38)	V249A	possibly damaging	Het
Dnah9	T	C	11: 66,084,611 (GRCm38)		probably null	Het
Dnajc3	C	A	14: 118,978,173 (GRCm38)	H502N	probably benign	Het
Dsp	A	G	13: 38,197,870 (GRCm38)	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,065,461 (GRCm38)	D208G	probably benign	Het
Evc	C	T	5: 37,322,049 (GRCm38)		probably null	Het
Fam98a	A	G	17: 75,538,982 (GRCm38)	S285P	probably damaging	Het
Glp2r	G	T	11: 67,757,593 (GRCm38)	Y94*	probably null	Het
Gm15293	C	T	8: 21,201,758 (GRCm38)	S52F	probably damaging	Het
Gsdmc	A	G	15: 63,804,380 (GRCm38)		probably null	Het
Gtpbp4	C	A	13: 8,985,217 (GRCm38)	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,671,738 (GRCm38)	Y77H	probably benign	Het
Irx2	T	C	13: 72,632,610 (GRCm38)	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,752,253 (GRCm38)	W396L	probably damaging	Het
Kif27	T	C	13: 58,328,994 (GRCm38)	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,450,801 (GRCm38)		probably null	Het
Lcn5	A	G	2: 25,661,414 (GRCm38)	I182V	probably benign	Het
Ldb3	T	G	14: 34,566,858 (GRCm38)	S252R	probably damaging	Het
March8	G	A	6: 116,386,271 (GRCm38)		probably benign	Het
Mdn1	C	A	4: 32,756,512 (GRCm38)	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,103,264 (GRCm38)	H236L	probably benign	Het
Mlph	A	G	1: 90,939,390 (GRCm38)	D378G	probably damaging	Het
Msi1	T	A	5: 115,450,885 (GRCm38)	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,163,250 (GRCm38)		probably benign	Het
Mtpap	T	C	18: 4,375,638 (GRCm38)	V6A	probably benign	Het
Nedd1	C	A	10: 92,695,031 (GRCm38)	D399Y	probably damaging	Het
Ninl	A	G	2: 150,939,909 (GRCm38)	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,190,918 (GRCm38)	G72S	probably benign	Het
Nle1	A	G	11: 82,904,937 (GRCm38)	V228A	probably benign	Het
Npy4r	T	A	14: 34,147,016 (GRCm38)	D105V	probably damaging	Het
Olfr1366	A	G	13: 21,537,982 (GRCm38)	Y8H	probably damaging	Het
Palld	C	T	8: 61,703,210 (GRCm38)	V464M	probably damaging	Het
Pclo	T	C	5: 14,669,221 (GRCm38)	V1124A	unknown	Het
Pex1	T	A	5: 3,609,924 (GRCm38)	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,504,025 (GRCm38)	S773N	probably benign	Het
Polrmt	A	G	10: 79,746,551 (GRCm38)	M1T	probably null	Het
Prmt9	A	G	8: 77,555,729 (GRCm38)	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,015,708 (GRCm38)		probably null	Het
Rbm19	T	A	5: 120,141,566 (GRCm38)	M766K	probably damaging	Het
Rdh11	A	G	12: 79,188,606 (GRCm38)	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,281 (GRCm38)	V335A	probably damaging	Het
Sema6a	T	C	18: 47,298,251 (GRCm38)	K127E	possibly damaging	Het
Slc5a1	C	T	5: 33,160,782 (GRCm38)	T593I	probably benign	Het
Slco1a1	A	G	6: 141,923,099 (GRCm38)	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826 (GRCm38)	S215P	probably damaging	Het
Smyd2	A	T	1: 189,882,188 (GRCm38)	V381E	probably damaging	Het
Smyd4	C	T	11: 75,382,294 (GRCm38)	S60L	probably benign	Het
Spata18	T	A	5: 73,678,993 (GRCm38)	V419E	probably damaging	Het
Terb1	A	G	8: 104,482,318 (GRCm38)	L376S	probably damaging	Het
Timd2	T	C	11: 46,682,790 (GRCm38)	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,320,605 (GRCm38)	T461K	probably benign	Het
Tpp2	G	A	1: 43,992,268 (GRCm38)	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,753,945 (GRCm38)	V22273A	probably damaging	Het
Tulp4	G	A	17: 6,198,813 (GRCm38)	E36K	probably damaging	Het
Uqcrfs1	A	T	13: 30,540,763 (GRCm38)	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,375,141 (GRCm38)	Q652L	probably damaging	Het
Vwf	C	T	6: 125,667,483 (GRCm38)	R2434*	probably null	Het
Wdhd1	A	G	14: 47,268,689 (GRCm38)	V256A	possibly damaging	Het
Zfp709	A	G	8: 71,889,788 (GRCm38)	T354A	probably benign	Het
Zswim2	A	T	2: 83,925,110 (GRCm38)	I149N	probably damaging	Het

Other mutations in Zfp442

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Zfp442	APN	2	150,409,347 (GRCm38)	nonsense	probably null
IGL02566:Zfp442	APN	2	150,409,791 (GRCm38)	critical splice acceptor site	probably null
IGL03217:Zfp442	APN	2	150,409,794 (GRCm38)	splice site	probably benign
LCD18:Zfp442	UTSW	2	150,419,848 (GRCm38)	intron	probably benign
PIT4812001:Zfp442	UTSW	2	150,409,741 (GRCm38)	nonsense	probably null
R0219:Zfp442	UTSW	2	150,411,240 (GRCm38)	missense	probably damaging	0.99
R0521:Zfp442	UTSW	2	150,411,249 (GRCm38)	missense	possibly damaging	0.92
R1633:Zfp442	UTSW	2	150,408,340 (GRCm38)	nonsense	probably null
R1702:Zfp442	UTSW	2	150,409,180 (GRCm38)	nonsense	probably null
R1829:Zfp442	UTSW	2	150,409,063 (GRCm38)	missense	probably damaging	0.99
R1868:Zfp442	UTSW	2	150,408,180 (GRCm38)	missense	probably damaging	1.00
R1898:Zfp442	UTSW	2	150,408,662 (GRCm38)	missense	probably damaging	1.00
R2030:Zfp442	UTSW	2	150,408,122 (GRCm38)	missense	possibly damaging	0.58
R4676:Zfp442	UTSW	2	150,409,606 (GRCm38)	missense	probably damaging	1.00
R4717:Zfp442	UTSW	2	150,408,229 (GRCm38)	missense	probably damaging	1.00
R4894:Zfp442	UTSW	2	150,411,210 (GRCm38)	critical splice donor site	probably null
R4932:Zfp442	UTSW	2	150,409,715 (GRCm38)	missense	possibly damaging	0.53
R5130:Zfp442	UTSW	2	150,409,610 (GRCm38)	missense	possibly damaging	0.91
R5476:Zfp442	UTSW	2	150,408,159 (GRCm38)	missense	probably damaging	1.00
R5986:Zfp442	UTSW	2	150,408,024 (GRCm38)	nonsense	probably null
R6042:Zfp442	UTSW	2	150,408,096 (GRCm38)	missense	probably damaging	0.97
R6383:Zfp442	UTSW	2	150,451,401 (GRCm38)	critical splice donor site	probably null
R6452:Zfp442	UTSW	2	150,408,108 (GRCm38)	missense	probably damaging	1.00
R6787:Zfp442	UTSW	2	150,409,579 (GRCm38)	missense	possibly damaging	0.72
R6931:Zfp442	UTSW	2	150,410,940 (GRCm38)	critical splice donor site	probably null
R7061:Zfp442	UTSW	2	150,408,017 (GRCm38)	missense	probably benign	0.33
R7184:Zfp442	UTSW	2	150,408,136 (GRCm38)	missense	possibly damaging	0.71
R7214:Zfp442	UTSW	2	150,409,281 (GRCm38)	missense	probably benign	0.04
R7225:Zfp442	UTSW	2	150,409,005 (GRCm38)	missense	probably benign	0.00
R7513:Zfp442	UTSW	2	150,408,756 (GRCm38)	missense	unknown
R7591:Zfp442	UTSW	2	150,408,172 (GRCm38)	nonsense	probably null
R7679:Zfp442	UTSW	2	150,410,997 (GRCm38)	nonsense	probably null
R7768:Zfp442	UTSW	2	150,408,321 (GRCm38)	missense	possibly damaging	0.53
R7801:Zfp442	UTSW	2	150,409,719 (GRCm38)	missense	probably benign	0.28
R7814:Zfp442	UTSW	2	150,409,482 (GRCm38)	missense	possibly damaging	0.92
R7848:Zfp442	UTSW	2	150,411,226 (GRCm38)	missense	possibly damaging	0.71
R8158:Zfp442	UTSW	2	150,409,176 (GRCm38)	missense	possibly damaging	0.83
R8192:Zfp442	UTSW	2	150,408,709 (GRCm38)	missense	unknown
R8528:Zfp442	UTSW	2	150,409,042 (GRCm38)	missense	probably damaging	1.00
R9110:Zfp442	UTSW	2	150,408,173 (GRCm38)	missense	probably benign	0.30
R9269:Zfp442	UTSW	2	150,409,367 (GRCm38)	missense	probably benign	0.19
R9371:Zfp442	UTSW	2	150,408,756 (GRCm38)	missense	unknown
R9401:Zfp442	UTSW	2	150,409,695 (GRCm38)	missense	possibly damaging	0.53
R9459:Zfp442	UTSW	2	150,408,748 (GRCm38)	missense	unknown
R9711:Zfp442	UTSW	2	150,408,287 (GRCm38)	missense	possibly damaging	0.93
Z1177:Zfp442	UTSW	2	150,408,479 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTCGTAGGGCTTCTCTCCAGTA -3'
(R):5'- AAACCCTTTGGATGTGACCAGTG -3'

Sequencing Primer
(F):5'- ACATTGCTTGCATCCATAGGG -3'
(R):5'- CCAGTGTGATAAGGCATTTGCAC -3'

Posted On

2016-04-27